• Gene id: 51293

Gene Summary

• Gene Symbol: CD320   Gene   UCSC   Ensembl
• Aliases: 8D6, 8D6A, TCBLR
• Gene name: CD320 molecule
• Alternate names: CD320 antigen, 8D6 antigen, FDC-SM-8D6, FDC-signaling molecule 8D6, transcobalamin receptor,
• Gene location: 19p13.2 (8308355: 8302126)     Exons: 5     NC_000019.10
• Gene summary(Entrez): This gene encodes the transcobalamin receptor that is expressed at the cell surface. It mediates the cellular uptake of transcobalamin bound cobalamin (vitamin B12), and is involved in B-cell proliferation and immunoglobulin secretion. Mutations in this g
• OMIM: 606475

SNPs

rs173665

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000019.10   g.8302030G>A
NC_000019.9   g.8366914G>A
NG_028124.1   g.11327C>T|SEQ=[G/A]|GENE=CD320

Protein Summary

• Protein general information: Q9NPF0  
  • Name: CD320 antigen (8D6 antigen) (FDC signaling molecule 8D6) (FDC SM 8D6) (Transcobalamin receptor) (TCblR) (CD antigen CD320)
  • Length: 282  
  • Mass: 28,991
• Sequence:

  MSGGWMAQVGAWRTGALGLALLLLLGLGLGLEAAASPLSTPTSAQAAGPSSGSCPPTKFQCRTSGLCVPLTWRCD
  RDLDCSDGSDEEECRIEPCTQKGQCPPPPGLPCPCTGVSDCSGGTDKKLRNCSRLACLAGELRCTLSDDCIPLTW
  RCDGHPDCPDSSDELGCGTNEILPEGDATTMGPPVTLESVTSLRNATTMGPPVTLESVPSVGNATSSSAGDQSGS
  PTAYGVIAAAAVLSASLVTATLLLLSWLRAQERLRPLGLLVAMKESLLLSEQKTSLP

• Structural information:
  • Protein Domains: LDL-receptor (53-90)
    LDL-receptor (131-168)
  • Interpro: IPR036055  IPR023415  IPR002172  
  • Prosite: PS01209 PS50068
  • CDD: cd00112
  • PDB: 4ZRP 4ZRQ
  • PDBsum: 4ZRP 4ZRQ
  • STRING: ENSP00000301458
• Other Databases: GeneCards:  CD320  Malacards:  CD320

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0001558	regulation of cell growth	NAS	biological process
GO:0005783	endoplasmic reticulum	IDA	cellular component
GO:0005886	plasma membrane	IDA	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0008083	growth factor activity	IEA	molecular function
GO:0009235	cobalamin metabolic process	TAS	biological process
GO:0010008	endosome membrane	TAS	cellular component
GO:0010008	endosome membrane	TAS	cellular component
GO:0015235	cobalamin transporter activity	TAS	molecular function
GO:0015889	cobalamin transport	IEA	biological process
GO:0016020	membrane	IDA	cellular component
GO:0016021	integral component of membrane	IEA	cellular component
GO:0030656	regulation of vitamin metabolic process	IEA	biological process
GO:0031419	cobalamin binding	IDA	molecular function
GO:0070062	extracellular exosome	IDA	cellular component
GO:0001558	regulation of cell growth	NAS	biological process
GO:0005783	endoplasmic reticulum	IDA	cellular component
GO:0005886	plasma membrane	IDA	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0008083	growth factor activity	IEA	molecular function
GO:0009235	cobalamin metabolic process	TAS	biological process
GO:0010008	endosome membrane	TAS	cellular component
GO:0010008	endosome membrane	TAS	cellular component
GO:0015235	cobalamin transporter activity	TAS	molecular function
GO:0015889	cobalamin transport	IEA	biological process
GO:0016020	membrane	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0016020	membrane	IDA	cellular component
GO:0016021	integral component of membrane	IEA	cellular component
GO:0030656	regulation of vitamin metabolic process	IEA	biological process
GO:0031419	cobalamin binding	IDA	molecular function
GO:0070062	extracellular exosome	IDA	cellular component
GO:0001558	regulation of cell growth	NAS	biological process
GO:0005783	endoplasmic reticulum	IDA	cellular component
GO:0005886	plasma membrane	IDA	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0009235	cobalamin metabolic process	TAS	biological process
GO:0010008	endosome membrane	TAS	cellular component
GO:0010008	endosome membrane	TAS	cellular component
GO:0015235	cobalamin transporter activity	TAS	molecular function
GO:0016020	membrane	IDA	cellular component
GO:0031419	cobalamin binding	IDA	molecular function
GO:0070062	extracellular exosome	IDA	cellular component

Diseases

Associated diseases	References
Neural tube defects	GAD: 20577008
Male factor infertility	MIK: 21857689
Cryptorchidism	MIK: 28606200
Hypospermatogenesis	MIK: 28361989
Idiopathic male infertility	MIK: 21857689

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
21857689	Idiopathic male infertility	PEMT (M175V), TCblR (rs173665)		337(153 men with idiopathic infertility, 184 fertile male controls)	Male infertility	PEMT TCblR
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq
28361989	Hypospermatogenesis			6 (3 controls, 3 Klienfelter syndrome	Male infertility	Microarray